Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-04-01

AUTHORS

Paolo Prontera, Daniela Rogaia, Ester Sallicandro, Amedea Mencarelli, Valentina Imperatore, Gabriella Maria Squeo, Giuseppe Merla, Sandro Elisei, Danilo Moretti-Ferreira, Susanna Esposito, Gabriela Stangoni

ABSTRACT

Schilbach–Rott syndrome (SRS, OMIM%164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, cleft palate, dysmorphic face, hypospadia in males and mild mental retardation in some patients. To date, 5 families and 17 patients have exhibited this phenotype, and recurrence in two of these families suggests an autosomal dominant inheritance. SRS overlaps with a mild form of holoprosencephaly (HPE), but array–CGH analysis and sequencing of some HPE-related genes (SEPT9, SHH and TWIST) did not reveal any variants in at least one family. Herein, we investigated by array–CGH analysis a 11-year-old female patient and her father, both exhibiting the typical SRS phenotype, disclosing in the daughter–father couple the same microduplication of chromosome 9q22.32q22.33 [arr[hg19]9q22.32(98,049,611_98,049,636)x3,9q22.33 (99,301,483_99,301,508)x3], involving eight genes, including PTCH1. The duplication segregated with the disease, since it was not found in the healthy paternal grandparents of the proband. The gain-of-function variants of the PTCH1 gene are responsible for a mild form of HPE. This is the first genetic variant found in SRS. This finding reinforces the hypothesis that SRS belongs to the HPE clinical spectrum and suggests to perform array–CGH in patients with SRS phenotype and, if negative, to consider a potential benefit from sequencing of HPE-related genes. More... »

PAGES

1260-1266

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41431-019-0385-6

DOI

http://dx.doi.org/10.1038/s41431-019-0385-6

DIMENSIONS

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PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30936464


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49 date
50 daughter–father couple
51 disease
52 disorders
53 dominant inheritance
54 duplication
55 dysmorphic face
56 epichantal folds
57 etiology
58 face
59 family
60 fathers
61 female patients
62 findings
63 first genetic variant
64 folds
65 form
66 function variants
67 genes
68 genetic variants
69 grandparents
70 healthy paternal grandparents
71 holoprosencephaly
72 hypospadias
73 hypotelorism
74 hypothesis
75 inheritance
76 males
77 mental retardation
78 microduplication
79 mild form
80 mild mental retardation
81 palate
82 paternal grandparents
83 patients
84 phenotype
85 potential benefits
86 probands
87 recurrence
88 retardation
89 same microduplication
90 sequencing
91 sequencing of HPE
92 spectra
93 syndrome
94 typical SRS phenotype
95 unknown etiology
96 variants
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