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Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

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Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance. / Zwink, Nadine; Dworschak, Gabriel C; Schmiedeke, Eberhard; Mortazawi, Kiarasch; Märzheuser, Stefanie; Reinshagen, Konrad; Leonhardt, Johannes; Gómez, Barbara; Volk, Patrick; Rißmann, Anke; Jenetzky, Ekkehart; Reutter, Heiko.

In: ORPHANET J RARE DIS, Vol. 12, No. 1, 13.12.2017, p. 180.

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

Harvard

Zwink, N, Dworschak, GC, Schmiedeke, E, Mortazawi, K, Märzheuser, S, Reinshagen, K, Leonhardt, J, Gómez, B, Volk, P, Rißmann, A, Jenetzky, E & Reutter, H 2017, 'Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance', ORPHANET J RARE DIS, vol. 12, no. 1, pp. 180. https://doi.org/10.1186/s13023-017-0729-7

APA

Zwink, N., Dworschak, G. C., Schmiedeke, E., Mortazawi, K., Märzheuser, S., Reinshagen, K., Leonhardt, J., Gómez, B., Volk, P., Rißmann, A., Jenetzky, E., & Reutter, H. (2017). Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance. ORPHANET J RARE DIS, 12(1), 180. https://doi.org/10.1186/s13023-017-0729-7

Vancouver

Zwink N, Dworschak GC, Schmiedeke E, Mortazawi K, Märzheuser S, Reinshagen K et al. Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance. ORPHANET J RARE DIS. 2017 Dec 13;12(1):180. https://doi.org/10.1186/s13023-017-0729-7

Bibtex

@article{eaa77ce6a27f469598c4efa73875820b,
title = "Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance",
abstract = "BACKGROUND: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM.RESULTS: Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%).CONCLUSIONS: Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.",
keywords = "Journal Article",
author = "Nadine Zwink and Dworschak, {Gabriel C} and Eberhard Schmiedeke and Kiarasch Mortazawi and Stefanie M{\"a}rzheuser and Konrad Reinshagen and Johannes Leonhardt and Barbara G{\'o}mez and Patrick Volk and Anke Ri{\ss}mann and Ekkehart Jenetzky and Heiko Reutter",
year = "2017",
month = dec,
day = "13",
doi = "10.1186/s13023-017-0729-7",
language = "English",
volume = "12",
pages = "180",
journal = "ORPHANET J RARE DIS",
issn = "1750-1172",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

TY - JOUR

T1 - Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance

AU - Zwink, Nadine

AU - Dworschak, Gabriel C

AU - Schmiedeke, Eberhard

AU - Mortazawi, Kiarasch

AU - Märzheuser, Stefanie

AU - Reinshagen, Konrad

AU - Leonhardt, Johannes

AU - Gómez, Barbara

AU - Volk, Patrick

AU - Rißmann, Anke

AU - Jenetzky, Ekkehart

AU - Reutter, Heiko

PY - 2017/12/13

Y1 - 2017/12/13

N2 - BACKGROUND: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM.RESULTS: Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%).CONCLUSIONS: Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.

AB - BACKGROUND: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM.RESULTS: Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%).CONCLUSIONS: Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.

KW - Journal Article

U2 - 10.1186/s13023-017-0729-7

DO - 10.1186/s13023-017-0729-7

M3 - SCORING: Journal article

C2 - 29237507

VL - 12

SP - 180

JO - ORPHANET J RARE DIS

JF - ORPHANET J RARE DIS

SN - 1750-1172

IS - 1

ER -