In:
Cytogenetic and Genome Research, S. Karger AG, Vol. 159, No. 3 ( 2019), p. 130-136
Abstract:
We report on a female patient who presented with severe intellectual disability and autistic behavior, dysmorphic features, orodental anomalies, and bilateral calcification of basal ganglia. Using a high-density oligonucleotide microarray, we have identified a de novo duplication of 11q13.1q22.1 involving the dosage sensitive genes 〈 i 〉 FGF3 〈 /i 〉 and 〈 i 〉 FGF4, 〈 /i 〉 genes related to autosomal dominant disorders 〈 i 〉 KMT5B, GAL, SPTBN2, 〈 /i 〉 and 〈 i 〉 LRP5, 〈 /i 〉 susceptibility loci 〈 i 〉 SCZD2, SLEH1, 〈 /i 〉 and 〈 i 〉 SHANK2, 〈 /i 〉 mitochondrial genes 〈 i 〉 NDUFV1, NDUFS8, 〈 /i 〉 and 〈 i 〉 TMEM126B, 〈 /i 〉 and many loss of function genes, including 〈 i 〉 PHOX2A, CLPB, MED17, B3GNT1, LIPT2, 〈 /i 〉 and 〈 i 〉 CLPB. 〈 /i 〉 However, the duplication did not involve Ribonuclease H2, subunit C ( 〈 i 〉 RNASEH2C 〈 /i 〉 ) which is considered to be located in the critical region for Aicardi-Goutières syndrome. In combination with the duplication at 11q13.1, a 1.849-Mb heterozygous duplication at 4q35.2 was also identified. Although this duplicated region does not contain causative genes related to brain calcification, the duplication at 4q35 was reported previously in a patient with basal ganglia calcification, coats' like retinopathy, and glomerulosclerosis. Our patient's presentation and genomic findings indicate that duplication of 4q35.2 could be a novel genetic cause of calcification of basal ganglia. Our report also underscores the clinical significance of rearrangements in 11q13.1q22.1 in the pathogenesis of basal ganglia calcification.
Type of Medium:
Online Resource
ISSN:
1424-8581
,
1424-859X
Language:
English
Publisher:
S. Karger AG
Publication Date:
2019
detail.hit.zdb_id:
2061918-2
SSG:
12
