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Edition of 07 July 2023

New Syndromes

FEM1C mutation & Neurodevelopmental disorder with absent speech , pyramidal signs and limb

A new study published in Human Molecular Genetics identified a de novo variant in FEM1C (a gene involved in the protein homeostasis network, through ubiquitin-proteasome system components), within a pediatric patient with developmental delay, pyramidal signs and limb ataxia. In vitro analysis (on a second de novo variant, associated with an undiagnosed developmental disorder) and an animal model (worms) strongly suggests a link with the disorder.

Hum Mol Genet . 2023 Mar 20;32(7):1152-1161

TTI1 mutations & Neurodevelopmental disorder with microcephaly

A new study published in the American Journal of Human Genetics identified bi-allelic variants (autosomal and recessive) in TTI1 (a telomere interacting protein involved in ATM and ATR response to DNA damage), within 11 individuals (from 9 unrelated families) who all express intellectual deficiency, and most with microcephaly, short stature, and a movement disorder. Functional studies (with cells and fibroblasts) and use of Rapamycin delineate a TTI1-related neurodevelopmental disorder and expand the group of disorders related to the TTT complex (TTI1, TTI2, TELO2).

To read more about “TELO2-related intellectual disability-neurodevelopmental disorder”

Am J Hum Genet . 2023 Mar 2;110(3):499-515

CHEK2 (mono-allelic) mutation & Constitutional chromosomal instability ?

A new study published in the European Journal of Human Genetics identified two variants (mono and bi-allelic) in CHEK2 (a gene associated with hereditary cancer risk) within two unrelated individuals with a personal and familial cancer history. Multiple cytogenetic anomalies were demonstrated on peripheral lymphocytes of both patients. If mono allelic mutations in CHEK2 gene have been associated with hereditary cancer risk, some biallelic ones (rare in the literature) might be associated with a novel disorder, further expanding the group of chromosome instability syndromes. Additional studies on larger cohorts are needed.

Eur J Hum Genet . 2023 Apr;31(4):474-478

AKT3 mutation & Capillary malformation and undergrowth

A new study published in the American Journal of Human Genetics identified a variant (somatic and mosaic) in AKT3 (a transmembrane leucine rich repeat protein), within a male patient who express capillary malformation and under-growth. It is essential to consider that mosaic pathogenic variants in AKT3 can cause a wide spectrum of disease. There is a need for future studies focusing on capillary malformations with undergrowth to understand the underlying mechanism.

Am J Med Genet A . 2023 May;191(5):1442-1446

New Genes

A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss : functional characterization of the C-terminal domain in LMX1A

To read more about “Rare autosomal dominant non-syndromic sensorineural deafness type DFNA”

Hum Mol Genet . 2023 Apr 6;32(8):1348-1360

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

Am J Med Genet A . 2023 May;191(5):1355-1359

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

To read more about “Autosomal dominant non-syndromic intellectual disability”

Eur J Hum Genet . 2023 Mar;31(3):345-352

Clinical Research

FD (Fabry disease) : Phenotype of females with GLA variants... retrospective observational study (the Spanish Fabry women study)

To read more about “Fabry disease”

Orphanet J Rare Dis . 2023 Jan 9;18(1):8

Inflammatory rheumatic diseases, chronic : Well‑being in pediatrics... the experience of a French healthcare network

Orphanet J Rare Dis . 2023 Mar 7;18(1):46

LHON (Leber hereditary optic neuropathy) : Phase 3, Bilateral gene therapy injection for m.11778G>A MT-ND4 mutation

To read more about “Leber hereditary optic neuropathy”

Brain . 2023 Apr 19;146(4):1328-1341

SLE (Systemic lupus erythematosus), active : Phase 3, anifrolumab... low disease activity state attainment (TULIP trials)

To read more about “Systemic lupus erythematosus”

Ann Rheum Dis . 2023 May;82(5):639-645

SLE (Systemic lupus erythematosus) : Phase 3, Baricitinib, SLE-BRAVE I and II (double- blind , randomised , placebo-controlled)

Read more 1
Read more 2

To read more about “Systemic lupus erythematosus”

Lancet . 2023 Mar 25;401(10381):1011-1019

HCL-C (Classic hairy cell leukemia), relapsed / refractory : Phase 2, dabrafenib + trametinib for BRAF V600E mutation

To read more about “Classic hairy cell leukemia”

Blood . 2023 Mar 2;141(9):996-1006

Macrophage activation syndrome : Phase 2, emapalumab... efficacy and safety (open-label, single-arm trial)

To read more about “Macrophage activation syndrome”

Ann Rheum Dis . 2023 Jun;82(6):857-865

Polymyalgia rheumatica : Phase 2, tofacitinib... efficacy and safety

To read more about “Polymyalgia rheumatica”

Ann Rheum Dis . 2023 May;82(5):722-724

ATLL (Adult T-cell leukemia/lymphoma), relapsed or refractory : Phase 2, Valemetostat (open-label, single-arm)

To read more about “Adult T-cell leukemia/lymphoma”

Blood . 2023 Mar 9;141(10):1159-1168

Juvenile idiopathic arthritis : Disease Recapture Rates After Medication Discontinuation and Flare... an observational study, Childhood Arthritis and Rheumatology Research Alliance Registry

To read more about “Juvenile idiopathic arthritis”

Arthritis Care Res (Hoboken) . 2023 Apr;75(4):715-723

Therapeutic Approaches

ALS (Amyotrophic lateral sclerosis) : Patients & Mouse model, protective effects of lovastatin

To read more about “Amyotrophic lateral sclerosis”

Ann Neurol . 2023 May;93(5):881-892

CTX (Cerebrotendinous xanthomatosis) : Patients & Stem cells (induced pluripotent, derived neurons from spastic paraplegia type 5), Chenodeoxycholic acid rescues axonal degeneration

To read more about “Cerebrotendinous xanthomatosis”

Orphanet J Rare Dis . 2023 Apr 6;18(1):72

Angelman syndrome : Mouse model... transcriptional reprogramming restores UBE3A brain-wide, and rescues behavioral phenotypes

To read more about “Angelman syndrome”

Mol Ther . 2023 Apr 5;31(4):1088-1105

MPD (Myeloproliferative neoplasm) : Mouse models, Targeting pleckstrin-2/Akt signaling reduces proliferation

To read more about “Myeloproliferative neoplasm”

J Clin Invest . 2023 Mar 15;133(6):e159638

Diagnostic Approaches

Down syndrome : Sreening and diagnosis practices (1990–2021), in Europe, United States, Australia, and New Zealand

To read more about “Down syndrome”

Eur J Hum Genet . 2023 May;31(5):497-503

Systemic sclerosis : Race & Risk of Scleroderma Renal Crisis

To read more about “Systemic sclerosis”

Arthritis Care Res (Hoboken) . 2023 Apr;75(4):801-807

Patient Management and Therapy

Alkaptonuria : Clinical innovation in randomised clinical trial... overcoming barriers to successful delivery, a mini ‑ review

To read more about “Alkaptonuria”

Orphanet J Rare Dis . 2023 Jan 4;18(1):1

PKU (Phenylketonuria) : Overweight and obesity in adult, a systematic review

To read more about “Phenylketonuria”

Orphanet J Rare Dis . 2023 Feb 22;18(1):37

ALL (Acute lymphoblastic leukemia) : How I prevent and treat central nervous system disease in adults

To read more about “Acute lymphoblastic leukemia”

Blood . 2023 Mar 23;141(12):1379-1388

Recommendations

Cystic lymphatic malformation : French national diagnosis and care protocol (PNDS , protocole national de diagnostic et de soins )

To read more about “Common cystic lymphatic malformation”

Orphanet J Rare Dis . 2023 Jan 13;18(1):10

Esophageal and Esophagogastric Junction Cancers: NCCN Clinical Practice Guidelines in Oncology, Version 2.2023

To read more about “Carcinoma of esophagus”

J Natl Compr Canc Netw . 2023 Apr;21(4):393-422

EBS (Epidermolysis bullosa simplex) : Anemia, diagnosis and management... consensus guidelines

To read more about “Epidermolysis bullosa simplex”

Orphanet J Rare Dis . 2023 Feb 23;18(1):38

PKU (Phenylketonuria) : Assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult... Expert opinion of an Italian working group

To read more about “Phenylketonuria”

Orphanet J Rare Dis . 2023 Mar 3;18(1):44

Epidemiology

Update of penetrance estimates in Birt-Hogg-Dubé syndrome

To read more about “Birt-Hogg-Dubé syndrome”

J Med Genet . 2023 Apr;60(4):317-326

Prevalence and descriptive epidemiology of Turner syndrome in the United States , 2000 – 2017 : A report from the National Birth Defects Prevention Network

To read more about “Turner syndrome”

Am J Med Genet A . 2023 May;191(5):1339-1349

Mitochondrial diseases in Hong Kong : prevalence , clinical characteristics and genetic landscape

To read more about “Mitochondrial disease”

Orphanet J Rare Dis . 2023 Mar 2;18(1):43

Quality of Life

Understanding patient and parent / caregiver perceptions on gene therapy in Gaucher disease : an international survey

To read more about “Gaucher disease”

Orphanet J Rare Dis . 2023 Jan 7;18(1):5

Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study

To read more about “Systemic sclerosis”

Orphanet J Rare Dis . 2023 Jan 9;18(1):7

Diagnosing rare diseases and mental well‑being: a family's story

Orphanet J Rare Dis . 2023 Mar 6;18(1):45

A survey exploring caregiver burden and health‑related quality of life in hereditary transthyretin amyloidosis

To read more about “Hereditary ATTR amyloidosis”

Orphanet J Rare Dis . 2023 Jan 26;18(1):17

Other news

See section « Political News »

Orphan drugs

Other news

See section « Political News »

Summary of the edition of 07 July 2023

Editorial
Political news
Scientific news
And also...

Edition of 07 July 2023

New Syndromes

FEM1C mutation & Neurodevelopmental disorder with absent speech , pyramidal signs and limb

TTI1 mutations & Neurodevelopmental disorder with microcephaly

CHEK2 (mono-allelic) mutation & Constitutional chromosomal instability ?

AKT3 mutation & Capillary malformation and undergrowth

New Genes

A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss : functional characterization of the C-terminal domain in LMX1A

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

Clinical Research

FD (Fabry disease) : Phenotype of females with GLA variants... retrospective observational study (the Spanish Fabry women study)

Inflammatory rheumatic diseases, chronic : Well‑being in pediatrics... the experience of a French healthcare network

LHON (Leber hereditary optic neuropathy) : Phase 3, Bilateral gene therapy injection for m.11778G&gt;A MT-ND4 mutation

SLE (Systemic lupus erythematosus), active : Phase 3, anifrolumab... low disease activity state attainment (TULIP trials)

SLE (Systemic lupus erythematosus) : Phase 3, Baricitinib, SLE-BRAVE I and II (double- blind , randomised , placebo-controlled)

HCL-C (Classic hairy cell leukemia), relapsed / refractory : Phase 2, dabrafenib + trametinib for BRAF V600E mutation

Macrophage activation syndrome : Phase 2, emapalumab... efficacy and safety (open-label, single-arm trial)

Polymyalgia rheumatica : Phase 2, tofacitinib... efficacy and safety

ATLL (Adult T-cell leukemia/lymphoma), relapsed or refractory : Phase 2, Valemetostat (open-label, single-arm)

Juvenile idiopathic arthritis : Disease Recapture Rates After Medication Discontinuation and Flare... an observational study, Childhood Arthritis and Rheumatology Research Alliance Registry

Therapeutic Approaches

ALS (Amyotrophic lateral sclerosis) : Patients & Mouse model, protective effects of lovastatin

CTX (Cerebrotendinous xanthomatosis) : Patients & Stem cells (induced pluripotent, derived neurons from spastic paraplegia type 5), Chenodeoxycholic acid rescues axonal degeneration

Angelman syndrome : Mouse model... transcriptional reprogramming restores UBE3A brain-wide, and rescues behavioral phenotypes

MPD (Myeloproliferative neoplasm) : Mouse models, Targeting pleckstrin-2/Akt signaling reduces proliferation

Diagnostic Approaches

Down syndrome : Sreening and diagnosis practices (1990–2021), in Europe, United States, Australia, and New Zealand

Systemic sclerosis : Race & Risk of Scleroderma Renal Crisis

Patient Management and Therapy

Alkaptonuria : Clinical innovation in randomised clinical trial... overcoming barriers to successful delivery, a mini ‑ review

PKU (Phenylketonuria) : Overweight and obesity in adult, a systematic review

ALL (Acute lymphoblastic leukemia) : How I prevent and treat central nervous system disease in adults

Recommendations

Cystic lymphatic malformation : French national diagnosis and care protocol (PNDS , protocole national de diagnostic et de soins )

Esophageal and Esophagogastric Junction Cancers: NCCN Clinical Practice Guidelines in Oncology, Version 2.2023

EBS (Epidermolysis bullosa simplex) : Anemia, diagnosis and management... consensus guidelines

PKU (Phenylketonuria) : Assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult... Expert opinion of an Italian working group

Epidemiology

Update of penetrance estimates in Birt-Hogg-Dubé syndrome

Prevalence and descriptive epidemiology of Turner syndrome in the United States , 2000 – 2017 : A report from the National Birth Defects Prevention Network

Mitochondrial diseases in Hong Kong : prevalence , clinical characteristics and genetic landscape

Quality of Life

Understanding patient and parent / caregiver perceptions on gene therapy in Gaucher disease : an international survey

Patient Assessment Chronic Illness Care (PACIC) and its associations with quality of life among Swiss patients with systemic sclerosis: a mixed methods study

Diagnosing rare diseases and mental well‑being: a family's story

A survey exploring caregiver burden and health‑related quality of life in hereditary transthyretin amyloidosis

Other news

Orphan drugs

Other news

Summary of the edition of 07 July 2023

Editorial

Political news

Scientific news

And also...

LHON (Leber hereditary optic neuropathy) : Phase 3, Bilateral gene therapy injection for m.11778G>A MT-ND4 mutation