del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangement

Akalın, İbrahim; Yararbaş, Kanay; Akgul, Nursen; Babaoğlu, Elif; Gümüş-Akay, Güvem; Dyer, Sara; Kutlay, Nüket Yürür; Ruhi, Hatice Ilgın; Kog, Gulay; Tükün, Ajlan

doi:10.1002/ajmg.a.31220

Cited by 2 publications

(2 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The present living case is one of the few that had typical features of Rett syndrome, where a disease-causing hemizygous c.316C>T (rs28934907, p.R106W) missense mutation at the MECP2 gene might represent somatic mosaicism. Moreover, given that the MEPC2 mutations were dominant in character, the absence of a c.316C>T mutation in the mother indicated the mutation to be de novo in the patient or the presence of gonadal mosaicism in the mother (15).…”

Section: Discussionmentioning

confidence: 99%

Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene

Gulle¹

2020

Dusunen Adam

View full text Add to dashboard Cite

Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene have been implicated in the etiology of Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls. MECP2 mutations in males, once thought to be lethal, are now recognized with a broad spectrum of clinical manifestations. Here we report a 3-year-old boy who presented with developmental problems and regression and eventually was diagnosed with RTT that genetic analysis revealed to be a hemizygous c.316C>T missense mutation in the MECP2 gene suggesting somatic mosaicism with the normal 46,XY karyotype. DNA analysis of the patient's mother showed this either to be a de novo mutation or a case of gonadal mosaicism. To the best of our knowledge, this is the first case report of RTT in a young boy with a hemizygous c.316C>T mutation in the MECP2 gene.

show abstract

Section: Discussionmentioning

confidence: 99%

Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene

Gulle¹

2020

Dusunen Adam

View full text Add to dashboard Cite

show abstract

“…This combination is virtually always associated with parental large pericentric inversions that lead to the formation of an inversion loop, promoting the production of double segmental aneusomy or meiotic recombination aneusomy in the gametes [de Perdigo et al, 1989]. Among previously reported cri-du-chat syndrome cases with meiotic recombination, the aneusomy of chromosome 5 in all [Faed et al, 1972;Neibuhr, 1978;Beemer et al, 1984;Miyazaki et al, 1985;Schroeder et al, 1986;Sonoda et al, 1989;Ono et al, 1993;Levy et al, 2002] but one case [Akalin et al, 2006] was cytogenetically visible using G-banding. When an accompanying 5q trisomy is detected, a significant recurrence risk is expected [Anton et al, 2005].…”

mentioning

confidence: 99%

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation

et al. 2010

View full text Add to dashboard Cite

Cri-du-chat syndrome is caused by haploinsufficiency of the genes on the distal part of the short arm of chromosome 5, and characteristic features include microcephaly, developmental delays, and a distinctive high-pitched mewing cry. Most cri-du-chat syndrome cases result from a sporadic de novo deletion that is associated with a low recurrence risk. On rare occasions, however, cri-du-chat syndrome with 5p monosomy can be accompanied by 5q trisomy. This combination is virtually always associated with parental large pericentric inversions. Among previously reported cri-du-chat syndrome cases with 5p monosomy accompanied by 5q trisomy, the aneusomy of chromosome 5 in all but one case was cytogenetically visible using G-banding. When an accompanying 5q trisomy is detected, a significant recurrence risk is expected. We here report on a patient with cri-du-chat syndrome phenotype who initially exhibited a normal karyotype on G-banding but in whom molecular analysis using multiplex ligation-dependent probe amplification and array comparative genomic hybridization revealed a 5p deletion accompanied by a 5q duplication. Parental chromosomal testing led to the identification of a very large pericentric inversion, of which breakpoints resided at the terminal regions of 5p15.31 and 5q35.1. This information was vital for counseling the family regarding the significantly high recurrence risk.

show abstract

del5p/dup5q in a ‘cri du chat’ patient without parental chromosomal rearrangement

Cited by 2 publications

References 19 publications

Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene

Typical Rett Syndrome in a young boy with hemizygous c.316C>T mutation in MECP2 gene

Cri-du-Chat Syndrome Cytogenetically Cryptic Recombination Aneusomy of Chromosome 5: Implications in Recurrence Risk Estimation

Contact Info

Product

Resources

About