A novel AMH missense mutation in a patient with persistent müllerian duct syndrome

Y. G. Van Der Zwan; H. T. Brüggenwirth; S. L.S. Drop; K. P. Wolffenbuttel; G. C. Madern; L. H.J. Looijenga; J. A. Visser

doi:10.1159/000339704

A novel AMH missense mutation in a patient with persistent müllerian duct syndrome

Y. G. Van Der Zwan, H. T. Brüggenwirth, S. L.S. Drop, K. P. Wolffenbuttel, G. C. Madern, L. H.J. Looijenga, J. A. Visser

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

14 Citaten (Scopus)

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Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation.

Originele taal-2	Engels
Pagina's (van-tot)	279-283
Aantal pagina's	5
Tijdschrift	Sexual Development
Volume	6
Nummer van het tijdschrift	6
DOI's	https://doi.org/10.1159/000339704
Status	Gepubliceerd - nov. 2012
Extern gepubliceerd	Ja

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title = "A novel AMH missense mutation in a patient with persistent m{\"u}llerian duct syndrome",

abstract = "Persistent M{\"u}llerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-M{\"u}llerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation.",

keywords = "Anti-M{\"u}llerian hormone, Missense mutation, Persistent M{\"u}llerian duct syndrome",

author = "\{Van Der Zwan\}, \{Y. G.\} and Br{\"u}ggenwirth, \{H. T.\} and Drop, \{S. L.S.\} and Wolffenbuttel, \{K. P.\} and Madern, \{G. C.\} and Looijenga, \{L. H.J.\} and Visser, \{J. A.\}",

note = "Copyright {\textcopyright} 2012 S. Karger AG, Basel.",

year = "2012",

month = nov,

doi = "10.1159/000339704",

language = "English",

volume = "6",

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journal = "Sexual Development",

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AU - Van Der Zwan, Y. G.

AU - Brüggenwirth, H. T.

AU - Drop, S. L.S.

AU - Wolffenbuttel, K. P.

AU - Madern, G. C.

AU - Looijenga, L. H.J.

AU - Visser, J. A.

PY - 2012/11

Y1 - 2012/11

N2 - Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation.

AB - Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation.

KW - Anti-Müllerian hormone

KW - Missense mutation

KW - Persistent Müllerian duct syndrome

UR - https://www.scopus.com/pages/publications/84870834403

U2 - 10.1159/000339704

DO - 10.1159/000339704

M3 - Article

C2 - 22797409

SN - 1661-5425

VL - 6

SP - 279

EP - 283

JO - Sexual Development

JF - Sexual Development

IS - 6

ER -

A novel AMH missense mutation in a patient with persistent müllerian duct syndrome

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