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Title: Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy
Authors: YAMAMOTO, Guilherme L.BARATELA, Wagner A. R.ALMEIDA, Tatiana F.LAZAR, MonizeAFONSO, Clara L.OYAMADA, Maria K.SUZUKI, LisaOLIVEIRA, Luiz A. N.RAMOS, Ester S.KIM, Chong A.PASSOS-BUENO, Maria RitaBERTOLA, Debora R.
Citation: AMERICAN JOURNAL OF HUMAN GENETICS, v.94, n.1, p.113-119, 2014
Abstract: Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by cone-rod dystrophy. Whole-exome sequencing of four individuals affected by this disorder from two Brazilian families identified two previously unreported homozygous mutations in PCYT1A. This gene encodes the alpha isoform of the phosphate cytidylyltransferase 1 choline enzyme, which is responsible for converting phosphocholine into cytidine diphosphate-choline, a key intermediate step in the phosphatidylcholine biosynthesis pathway. A different enzymatic defect in this pathway has been previously associated with a muscular dystrophy with mitochondrial structural abnormalities that does not have cartilage and/or bone or retinal involvement. Thus, the deregulation of the phosphatidylcholine pathway may play a role in multiple genetic diseases in humans, and further studies are necessary to uncover its precise pathogenic mechanisms and the entirety of its phenotypic spectrum.
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Artigos e Materiais de Revistas Científicas - FM/MPE
Departamento de Pediatria - FM/MPE

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - HC/ICr
Instituto da Criança - HC/ICr

Artigos e Materiais de Revistas Científicas - LIM/33
LIM/33 - Laboratório de Oftalmologia

Artigos e Materiais de Revistas Científicas - LIM/36
LIM/36 - Laboratório de Pediatria Clínica

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