Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia / 소아과
Korean Journal of Pediatrics
;
: 240-244, 2014.
Artículo
en Inglés
| WPRIM
| ID: wpr-84215
ABSTRACT
Pseudohypoparathyroidism type Ia (PHP Ia) is a disorder characterized by multiform hormonal resistance including parathyroid hormone (PTH) resistance and Albright hereditary osteodystrophy (AHO). It is caused by heterozygous inactivating mutations within the Gs alpha-encoding GNAS exons. A 9-year-old boy presented with clinical and laboratory abnormalities including hypocalcemia, hyperphosphatemia, PTH resistance, multihormone resistance and AHO (round face, short stature, obesity, brachydactyly and osteoma cutis) which were typical of PHP Ia. He had a history of repeated convulsive episodes that started from the age of 2 months. A cranial computed tomography scan showed bilateral calcifications in the basal ganglia and his intelligence quotient testing indicated mild mental retardation. Family history revealed that the patient's maternal relatives, including his grandmother and 2 of his mother's siblings, had features suggestive of AHO. Sequencing of the GNAS gene of the patient identified a heterozygous nonsense mutation within exon 11 (c.637 C>T). The C>T transversion results in an amino acid substitution from Gln to stop codon at codon 213 (p.Gln213*). To our knowledge, this is a novel mutation in GNAS.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteoma
/
Hormona Paratiroidea
/
Seudohipoparatiroidismo
/
Ganglios Basales
/
Codón
/
Exones
/
Codón de Terminación
/
Codón sin Sentido
/
Sustitución de Aminoácidos
/
Hermanos
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Korean Journal of Pediatrics
Año:
2014
Tipo del documento:
Artículo
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