Unknown

Dataset Information

0

Novel heterozygous mutation in TBX1 in an infant with hypocalcemic seizures.

ABSTRACT: Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11.2 region includes TBX1 and 30 other genes. Analysis of Tbx1 transgenic mice showed that TBX1 was associated with the 22q11.2 deletion syndrome. In humans, TBX1 mutations have been reported in 22q11.2 deletion-negative patients with velocardiofacial syndrome or DiGeorge syndrome. Genotype-phenotype correlations are not fully understood in these patients. We report the case of an infant with a novel heterozygous TBX1 mutation who experienced hypocalcemic seizures. This patient had no palate abnormalities, cardiac anomalies, or the typical facial appearance observed in 22q11.2 deletion syndrome. The presence of thymic hypoplasia prompted us to perform G-banding, fluorescent in situ hybridization, and subsequent TBX1 analysis. We emphasize the importance of diagnosing thymic hypoplasia in hypocalcemic infants without 22q11.2 deletion for detecting TBX1 mutations.

SUBMITTER: Hasegawa K 

PROVIDER: S-EPMC6073064 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Novel heterozygous mutation in <i>TBX1</i> in an infant with hypocalcemic seizures.

Hasegawa Kosei K   Tanaka Hiroyuki H   Higuchi Yousuke Y   Hayashi Yumiko Y   Kobayashi Katsuhiro K   Tsukahara Hirokazu H  

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 20180731 3

Patients with 22q11.2 deletion syndrome have characteristic facial appearance, palate abnormalities, hypoparathyroidism, thymic hypoplasia, and congenital heart disease. The 22q11.2 region includes <i>TBX1</i> and 30 other genes. Analysis of <i>Tbx1</i> transgenic mice showed that <i>TBX1</i> was associated with the 22q11.2 deletion syndrome. In humans, <i>TBX1</i> mutations have been reported in 22q11.2 deletion-negative patients with velocardiofacial syndrome or DiGeorge syndrome. Genotype-phe  ...[more]

Similar Datasets

Unknown Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism.
| S-EPMC6194809 | biostudies-literature
Unknown Neonatal Hypocalcemic Seizures in Offspring of a Mother With Familial Hypocalciuric Hypercalcemia Type 1 (FHH1).
| S-EPMC7096312 | biostudies-literature
Unknown A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia.
| S-EPMC5551424 | biostudies-other
Unknown Camptocormia as a Novel Phenotype in a Heterozygous POLG2 Mutation.
| S-EPMC7168901 | biostudies-literature
Unknown Loeys-Dietz syndrome associated with a heterozygous mutation in TGFBR2 in a female infant: A case report.
| S-EPMC7678639 | biostudies-literature
Unknown Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.
| S-EPMC5775800 | biostudies-literature
Unknown Novel TBX1 loss-of-function mutation causes isolated conotruncal heart defects in Chinese patients without 22q11.2 deletion.
| S-EPMC4099205 | biostudies-literature
Unknown A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea.
| S-EPMC2967011 | biostudies-literature
Unknown Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.
| S-EPMC4501863 | biostudies-literature
Unknown A novel de novo heterozygous ALPL nonsense mutation associated with adult hypophosphatasia.
| S-EPMC8214176 | biostudies-literature