Abstract
BackgroundTrichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Loss of functional copies of the TRPS1 gene at 8q23.3 and the EXT1 gene at 8q24.11 are considered to be responsible for the syndrome.Case PresentationHerewith, we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. In addition, the patient also had annular pancreas, a rare co-existing feature in patients with TRPS II.ConclusionsA contiguous 5.47 Mb deletion involving 8q23.3-q24.12 was detected by array comparative genomic hybridization (aCGH), leading to haploinsufficiency of 10 protein coding genes, 1 long non-coding RNA and 1 microRNA. Quantitative PCR (qPCR) examination confirmed half-reduced DNA copy of the patient and normal expression of both parents, indicating a de novo origin of the deletion and complete penetrance of the mutation.
Highlights
Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities
We present an 8-year-old female with sparse scalp hair, facial dysmorphism, malaligned crowded teeth, multiple exostoses, winged scapulae, annular pancreas, mild intellectual impairment and an 8q23.3q24.12 deletion detected by array comparative genomic hybridization (aCGH)
Targeted gene sequencing revealed no pathological mutation of TRPS1 and EXT1 gene in the patient
Summary
Trichorhinophalangeal syndrome type II (TRPS II, OMIM # 150230) is a rare autosomal dominant genetic disorder characterized by craniofacial and skeletal abnormalities. Case Presentation: we report an 8-year-old girl with sparse scalp hair, bulbous nose, thin upper lip, broad eyebrows, phalangeal abnormalities of both hands/toes, multiple exostoses, mild intellectual impairment and severe malnutrition. Trichorhinophalangeal syndrome type II (TRPS II), known as Langer–Giedion syndrome (LGS), is a contiguous gene deletion syndrome involving loss of functional copies of multiple genes on 8q24.1. 8q24 in an individual with TRPS II [3], and later on proposed this complex disease as a chromosome deletion syndrome involving both TRPS1 and the gene for multiple hereditary exostoses EXT1. Mild to moderate intellectual disability, conductive hearing loss, epilepsy, congenital nephrotic syndrome, growth hormone deficiency, and a submucosal cleft palate have all been described as additional features of TRPS2/ LGS depending on the deletion size [5,6,7,8,9]
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