Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
نویسندگان
چکیده
منابع مشابه
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica
Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar...
متن کاملCutis laxa autosomal recessive type II or wrinkly skin syndrome?
1. Gutte R, Khopkar U. Predominant palmoplantar lichen planus: A diagnostic challenge. Indian J Dermatol 2014;59:343‐7. 2. Pavitran K, Karunakaram M, Palit A, Raghunatha S. On disorders of keratinisation. In: Valia RG, Valia AR, editors. IADVL Textbook of Dermatology. 3rd ed. Mumbai, India: Bhalani Publishers; 2008. p. 995‐1069. 3. Gutte RM. Unilateral acrosyringeal lichen planus of palm. India...
متن کاملMutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.
Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in five families affected by mild to severe cutis laxa, dysmorphic facial features, and cardiopulmonary involvement identified biallelic missense mutations in ATP6V1E1 and ATP6V1A,...
متن کاملCongenital cutis laxa syndrome: type II autosomal recessive inheritance.
Cutis laxa is a term that refers to markedly loose skin that is not hyperelastic. It is regarded as a genetically heterogeneous group of diseases and is presently divided into five types. We report a male patient with type II autosomal recessive disease. The patient was the third child of first-cousin consanguineous, healthy parents. His two siblings died a few hours after birth. One of the sib...
متن کاملATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA
Patients with ARCL-IIA harbor mutations in ATP6V0A2 that codes for an organelle proton pump. The ARCL-IIA syndrome characteristically presents a combined glycosylation defect affecting N-linked and O-linked glycosylations, differentiating it from other cutis laxa syndromes and classifying it as a Congenital Disorder of Glycosylation (ATP6V0A2-CDG). We studied two Mexican Mestizo patients with a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Human Genetics
سال: 2012
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-012-1197-8