Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

Irina Hüning; Kerstin Kutsche; Saideh Rajaei; Anna Erlandsson; Lovisa Lovmar; Julia Rundberg; Margarita Stefanova

doi:10.1016/j.ejmg.2013.01.004

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

Standard

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. / Hüning, Irina; Kutsche, Kerstin; Rajaei, Saideh; Erlandsson, Anna; Lovmar, Lovisa; Rundberg, Julia; Stefanova, Margarita.

In: EUR J MED GENET, Vol. 56, No. 4, 01.04.2013, p. 188-91.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Hüning, I, Kutsche, K, Rajaei, S, Erlandsson, A, Lovmar, L, Rundberg, J & Stefanova, M 2013, 'Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome', EUR J MED GENET, vol. 56, no. 4, pp. 188-91. https://doi.org/10.1016/j.ejmg.2013.01.004

APA

Hüning, I., Kutsche, K., Rajaei, S., Erlandsson, A., Lovmar, L., Rundberg, J., & Stefanova, M. (2013). Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. EUR J MED GENET, 56(4), 188-91. https://doi.org/10.1016/j.ejmg.2013.01.004

Vancouver

Hüning I, Kutsche K, Rajaei S, Erlandsson A, Lovmar L, Rundberg J et al. Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. EUR J MED GENET. 2013 Apr 1;56(4):188-91. https://doi.org/10.1016/j.ejmg.2013.01.004

Bibtex

@article{0db9d0d9a1b74d77acd6edc3ffd20254,

title = "Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome",

abstract = "The X-linked form of Opitz G/BBB syndrome is a congenital midline malformation syndrome caused by MID1 loss-of-function mutations, including point mutations and small-sized duplications, insertions, and deletions. Three patients with an Opitz G/BBB syndrome phenotype and relatively large duplications of part of the MID1 gene have been described up to date. Here we report a 2-months-old boy with a very mild phenotype including craniofacial dysmorphism, swallowing difficulties, and a normal psychomotor development. Molecular karyotyping revealed a 57-kb duplication involving exon 2 of the MID1 gene. The in-frame tandem duplication was confirmed by MID1 transcript analysis. This alteration results likely in a mutant MID1 protein which contains 32 duplicated amino acids in the first part of the coiled-coil domain. The mild phenotype of the patient with the microduplication suggests that MID1 mutations can be found in patients with hypertelorism with or without other clinical signs and MID1 alterations might be missed in individuals not fulfilling the minimal criteria for diagnosis of X-linked Opitz G/BBB syndrome. This report further emphasizes the genotype-first approach in medical genetics in general and patients with unspecific clinical features in particular.",

keywords = "Esophagus, Exons, Gene Duplication, Humans, Hypertelorism, Hypospadias, Infant, Male, Microtubule Proteins, Nuclear Proteins, Phenotype, Protein Structure, Tertiary, Tandem Repeat Sequences, Transcription Factors",

author = "Irina H{\"u}ning and Kerstin Kutsche and Saideh Rajaei and Anna Erlandsson and Lovisa Lovmar and Julia Rundberg and Margarita Stefanova",

year = "2013",

month = apr,

day = "1",

doi = "10.1016/j.ejmg.2013.01.004",

language = "English",

volume = "56",

pages = "188--91",

journal = "EUR J MED GENET",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

number = "4",

}

RIS

TY - JOUR

T1 - Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

AU - Hüning, Irina

AU - Kutsche, Kerstin

AU - Rajaei, Saideh

AU - Erlandsson, Anna

AU - Lovmar, Lovisa

AU - Rundberg, Julia

AU - Stefanova, Margarita

PY - 2013/4/1

Y1 - 2013/4/1

N2 - The X-linked form of Opitz G/BBB syndrome is a congenital midline malformation syndrome caused by MID1 loss-of-function mutations, including point mutations and small-sized duplications, insertions, and deletions. Three patients with an Opitz G/BBB syndrome phenotype and relatively large duplications of part of the MID1 gene have been described up to date. Here we report a 2-months-old boy with a very mild phenotype including craniofacial dysmorphism, swallowing difficulties, and a normal psychomotor development. Molecular karyotyping revealed a 57-kb duplication involving exon 2 of the MID1 gene. The in-frame tandem duplication was confirmed by MID1 transcript analysis. This alteration results likely in a mutant MID1 protein which contains 32 duplicated amino acids in the first part of the coiled-coil domain. The mild phenotype of the patient with the microduplication suggests that MID1 mutations can be found in patients with hypertelorism with or without other clinical signs and MID1 alterations might be missed in individuals not fulfilling the minimal criteria for diagnosis of X-linked Opitz G/BBB syndrome. This report further emphasizes the genotype-first approach in medical genetics in general and patients with unspecific clinical features in particular.

AB - The X-linked form of Opitz G/BBB syndrome is a congenital midline malformation syndrome caused by MID1 loss-of-function mutations, including point mutations and small-sized duplications, insertions, and deletions. Three patients with an Opitz G/BBB syndrome phenotype and relatively large duplications of part of the MID1 gene have been described up to date. Here we report a 2-months-old boy with a very mild phenotype including craniofacial dysmorphism, swallowing difficulties, and a normal psychomotor development. Molecular karyotyping revealed a 57-kb duplication involving exon 2 of the MID1 gene. The in-frame tandem duplication was confirmed by MID1 transcript analysis. This alteration results likely in a mutant MID1 protein which contains 32 duplicated amino acids in the first part of the coiled-coil domain. The mild phenotype of the patient with the microduplication suggests that MID1 mutations can be found in patients with hypertelorism with or without other clinical signs and MID1 alterations might be missed in individuals not fulfilling the minimal criteria for diagnosis of X-linked Opitz G/BBB syndrome. This report further emphasizes the genotype-first approach in medical genetics in general and patients with unspecific clinical features in particular.

KW - Esophagus

KW - Exons

KW - Gene Duplication

KW - Humans

KW - Hypertelorism

KW - Hypospadias

KW - Infant

KW - Male

KW - Microtubule Proteins

KW - Nuclear Proteins

KW - Phenotype

KW - Protein Structure, Tertiary

KW - Tandem Repeat Sequences

KW - Transcription Factors

U2 - 10.1016/j.ejmg.2013.01.004

DO - 10.1016/j.ejmg.2013.01.004

M3 - SCORING: Journal article

C2 - 23354372

VL - 56

SP - 188

EP - 191

JO - EUR J MED GENET

JF - EUR J MED GENET

SN - 1769-7212

IS - 4

ER -