Results 141 to 150 of about 338,913 (237)

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, Volume 110, Issue 6, Page 736-741, December 2026.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source

Pathogenicity of NUSAP1 Variants Is Defined by NMD‐Escape: Evidence From Two Novel Cases and Systematic Population‐Based Variant Analysis

Clinical Genetics, Volume 110, Issue 6, Page 768-774, December 2026.
Heterozygous de novo nonsense variants in the penultimate and last exons of NUSAP1 were identified in two unrelated individuals, predicted to escape NMD. In population data, nonsense variants were observed in exons 1–9 (of 11) in NUSAP1 but were absent from its 3′‐terminal region.
Maureen Jacob, Susann Badmann, Stefania Bigoni, Maria Iascone, Ilaria Vivaldi, Katharina Mayerhanser, Robert Kopajtich, Holger Prokisch, Cristina Forest, Sebastian Eck, Michael Zech, Elisabeth Graf, Matias Wagner, Juliane Winkelmann, Theresa Brunet, Melanie Brugger   +15 more
wiley   +1 more source

A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient

Phosphatidylinositol glycan class T (PIGT) is part of the glycosylphosphatidylinositol transamidase (GPI-TA) complex, crucial for various cell functions.
Jeerawan Klangjorhor, Pimpisa Teeyakasem, Pitiporn Noisagul, Maliwan Tengsujaritkul, Arnat Pasena, Pathacha Suksakit, Nonthanan Moonsan, Nutnicha Sirikaew, Natrujee Wiwattanadittakul, Thanapak Jaimalai, Ratchadaporn Khiaomai, Patcharawadee Thongkumkoon, Parunya Chaiyawat   +12 more
core   +1 more source

Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)

Clinical Genetics, Volume 110, Issue 6, Page 793-794, December 2026.
A three‐year‐old girl with attenuated protein‐losing enteropathy carried compound‐heterozygous missense PLVAP variants inherited from unaffected non‐consanguineous parents. The case supports residual PLVAP function in missense‐associated DIAR10 and expands its genetic and clinical spectrum.
Jana Zídková, Dagmar Procházková, Petra Konečná, Kamila Réblová, Tereza Kramářová, Johana Kopčilová, Magdaléna Soukup Vodičková, Romana Borská, Lenka Fajkusová   +8 more
wiley   +1 more source

Intermittent Maple Syrup Urine Disease Presenting With Chronic Demyelinating Polyneuropathy: A Genetically Confirmed DBT‐Related Case

Journal of the Peripheral Nervous System, Volume 31, Issue 4, December 2026.
ABSTRACT Background and Aims Maple syrup urine disease (MSUD) is an inherited disorder of branched‐chain amino acid metabolism caused by deficiency of the branched‐chain α‐keto acid dehydrogenase complex. Neurological manifestations predominantly involve the central nervous system, whereas peripheral nervous system involvement has been rarely reported.
Gustavo Rodrigues Ferreira Gomes, Antonio Edvan Camelo Filho, Ellen Mourão Soares Lopes, Raquel Diógenes Alencar, Erlane Marques Ribeiro, Kécia Tavares de Oliveira, Paulo Ribeiro Nóbrega, André Luiz Santos Pessoa   +7 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Neonatal nemaline myopathy associated with NEB variants and a favorable 3-year outcome: A case report. [PDF]

Medicine (Baltimore)
Liu Z, Luo Y, Li G, Li R, Cao X.
europepmc   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2558-2561, November 2026.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source