Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Soren L. Faergeman; Anders B. Bojesen; Maria Rasmussen; Naja Becher; Lotte Andreasen; Brian N. Andersen; Emilie Erbs; Dorte L. Lildballe; Jens Erik K. Nielsen; Monica Zilmer; Trine Bjørg Hammer; Mikkel Andersen; Charlotte Brasch-Andersen; Christina R. Fagerberg; Niels O. Illum; Mette B. Thorup; Pernille A. Gregersen

doi:10.1016/j.ejmg.2021.104280

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Soren L. Faergeman^*, Anders B. Bojesen, Maria Rasmussen, Naja Becher, Lotte Andreasen, Brian N. Andersen, Emilie Erbs, Dorte L. Lildballe, Jens Erik K. Nielsen, Monica Zilmer, Trine Bjørg Hammer, Mikkel Andersen, Charlotte Brasch-Andersen, Christina R. Fagerberg, Niels O. Illum, Mette B. Thorup, Pernille A. Gregersen

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Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Abstract

Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.

Originalsprog	Engelsk
Artikelnummer	104280
Tidsskrift	European Journal of Medical Genetics
Vol/bind	64
Udgave nummer	9
ISSN	1769-7212
DOI	https://doi.org/10.1016/j.ejmg.2021.104280
Status	Udgivet - sep. 2021

Bibliografisk note

Publisher Copyright:
© 2021

Dokumenter og links

10.1016/j.ejmg.2021.104280

Citationsformater

Faergeman, S. L., Bojesen, A. B., Rasmussen, M., Becher, N., Andreasen, L., Andersen, B. N., Erbs, E., Lildballe, D. L., Nielsen, J. E. K., Zilmer, M., Hammer, T. B., Andersen, M., Brasch-Andersen, C., Fagerberg, C. R., Illum, N. O., Thorup, M. B., & Gregersen, P. A. (2021). Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1. European Journal of Medical Genetics, 64(9), Artikel 104280. https://doi.org/10.1016/j.ejmg.2021.104280

@article{3079a8e454f347949118690af5b3853a,

title = "Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1",

abstract = "Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.",

keywords = "AHDC1, Dysmorphism, Reverse phenotyping, Whole exome sequencing, Xia-gibbs syndrome",

author = "Faergeman, {Soren L.} and Bojesen, {Anders B.} and Maria Rasmussen and Naja Becher and Lotte Andreasen and Andersen, {Brian N.} and Emilie Erbs and Lildballe, {Dorte L.} and Nielsen, {Jens Erik K.} and Monica Zilmer and Hammer, {Trine Bj{\o}rg} and Mikkel Andersen and Charlotte Brasch-Andersen and Fagerberg, {Christina R.} and Illum, {Niels O.} and Thorup, {Mette B.} and Gregersen, {Pernille A.}",

note = "Publisher Copyright: {\textcopyright} 2021",

year = "2021",

month = sep,

doi = "10.1016/j.ejmg.2021.104280",

language = "English",

volume = "64",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson",

number = "9",

}

Faergeman, SL, Bojesen, AB, Rasmussen, M, Becher, N, Andreasen, L, Andersen, BN, Erbs, E, Lildballe, DL, Nielsen, JEK, Zilmer, M, Hammer, TB, Andersen, M , Brasch-Andersen, C, Fagerberg, CR, Illum, NO, Thorup, MB & Gregersen, PA 2021, 'Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1', European Journal of Medical Genetics, bind 64, nr. 9, 104280. https://doi.org/10.1016/j.ejmg.2021.104280

TY - JOUR

T1 - Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome

T2 - Five Danish patients with novel variants in AHDC1

AU - Faergeman, Soren L.

AU - Bojesen, Anders B.

AU - Rasmussen, Maria

AU - Becher, Naja

AU - Andreasen, Lotte

AU - Andersen, Brian N.

AU - Erbs, Emilie

AU - Lildballe, Dorte L.

AU - Nielsen, Jens Erik K.

AU - Zilmer, Monica

AU - Hammer, Trine Bjørg

AU - Andersen, Mikkel

AU - Brasch-Andersen, Charlotte

AU - Fagerberg, Christina R.

AU - Illum, Niels O.

AU - Thorup, Mette B.

AU - Gregersen, Pernille A.

PY - 2021/9

Y1 - 2021/9

N2 - Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.

AB - Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.

KW - AHDC1

KW - Dysmorphism

KW - Reverse phenotyping

KW - Whole exome sequencing

KW - Xia-gibbs syndrome

U2 - 10.1016/j.ejmg.2021.104280

DO - 10.1016/j.ejmg.2021.104280

M3 - Journal article

C2 - 34229113

AN - SCOPUS:85109430816

SN - 1769-7212

VL - 64

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 9

M1 - 104280

ER -

Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Abstract

Bibliografisk note

Dokumenter og links

Fingeraftryk

Citationsformater