Novel variants in the SOX11 gene: clinical description of seven new patients

Beatriz Schincariol-Manhe; Érica Campagnolo; Samira Spineli-Silva; Nicole de Leeuw; Gabriela Roldão Correia-Costa; André Pessoa; Carolina Fischinger Moura de Souza; Cathy Stevens; Poupak Javaher; Helena Fabbri Scallet; Julia Mohr; Saskia Biskup; Johanna C. Herkert; Rolph Pfundt; Lakshmi Mehta; Aisha Rekab; Houda Zghal Elloumi; May Sanyoura; Andréa Trevas Maciel-Guerra; Vera Lúcia Gil-da-Silva-Lopes; Ana Mondadori dos Santos; Társis Paiva Vieira

doi:10.1038/s41431-024-01695-8

Novel variants in the SOX11 gene: clinical description of seven new patients

Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli-Silva, Nicole de Leeuw, Gabriela Roldão Correia-Costa, André Pessoa, Carolina Fischinger Moura de Souza, Cathy Stevens, Poupak Javaher, Helena Fabbri Scallet, Julia Mohr, Saskia Biskup, Johanna C. Herkert, Rolph Pfundt, Lakshmi Mehta, Aisha Rekab, Houda Zghal Elloumi, May Sanyoura, Andréa Trevas Maciel-Guerra, Vera Lúcia Gil-da-Silva-LopesAna Mondadori dos Santos, Társis Paiva Vieira

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with SOX11 variants and supports the role of this gene in HH.

Original language	English
Pages (from-to)	1640-1646
Number of pages	7
Journal	European Journal of Human Genetics
Volume	32
Issue number	12
DOIs	https://doi.org/10.1038/s41431-024-01695-8
State	Published - Dec 2024
Externally published	Yes

Access to Document

10.1038/s41431-024-01695-8

Cite this

Schincariol-Manhe, B., Campagnolo, É., Spineli-Silva, S., de Leeuw, N., Correia-Costa, G. R., Pessoa, A., de Souza, C. F. M., Stevens, C., Javaher, P., Scallet, H. F., Mohr, J., Biskup, S., Herkert, J. C., Pfundt, R., Mehta, L., Rekab, A., Elloumi, H. Z., Sanyoura, M., Maciel-Guerra, A. T., ... Vieira, T. P. (2024). Novel variants in the SOX11 gene: clinical description of seven new patients. European Journal of Human Genetics, 32(12), 1640-1646. https://doi.org/10.1038/s41431-024-01695-8

@article{789be91bf8e44a79a781b1d4360b3bce,

title = "Novel variants in the SOX11 gene: clinical description of seven new patients",

abstract = "Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with SOX11 variants and supports the role of this gene in HH.",

author = "Beatriz Schincariol-Manhe and {\'E}rica Campagnolo and Samira Spineli-Silva and {de Leeuw}, Nicole and Correia-Costa, {Gabriela Rold{\~a}o} and Andr{\'e} Pessoa and {de Souza}, {Carolina Fischinger Moura} and Cathy Stevens and Poupak Javaher and Scallet, {Helena Fabbri} and Julia Mohr and Saskia Biskup and Herkert, {Johanna C.} and Rolph Pfundt and Lakshmi Mehta and Aisha Rekab and Elloumi, {Houda Zghal} and May Sanyoura and Maciel-Guerra, {Andr{\'e}a Trevas} and Gil-da-Silva-Lopes, {Vera L{\'u}cia} and {dos Santos}, {Ana Mondadori} and Vieira, {T{\'a}rsis Paiva}",

note = "Publisher Copyright: {\textcopyright} The Author(s), under exclusive licence to European Society of Human Genetics 2024.",

year = "2024",

month = dec,

doi = "10.1038/s41431-024-01695-8",

language = "English",

volume = "32",

pages = "1640--1646",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "12",

}

Schincariol-Manhe, B, Campagnolo, É, Spineli-Silva, S, de Leeuw, N, Correia-Costa, GR, Pessoa, A, de Souza, CFM, Stevens, C, Javaher, P, Scallet, HF, Mohr, J, Biskup, S, Herkert, JC, Pfundt, R, Mehta, L, Rekab, A, Elloumi, HZ, Sanyoura, M, Maciel-Guerra, AT, Gil-da-Silva-Lopes, VL, dos Santos, AM & Vieira, TP 2024, 'Novel variants in the SOX11 gene: clinical description of seven new patients', European Journal of Human Genetics, vol. 32, no. 12, pp. 1640-1646. https://doi.org/10.1038/s41431-024-01695-8

TY - JOUR

T1 - Novel variants in the SOX11 gene

T2 - clinical description of seven new patients

AU - Schincariol-Manhe, Beatriz

AU - Campagnolo, Érica

AU - Spineli-Silva, Samira

AU - de Leeuw, Nicole

AU - Correia-Costa, Gabriela Roldão

AU - Pessoa, André

AU - de Souza, Carolina Fischinger Moura

AU - Stevens, Cathy

AU - Javaher, Poupak

AU - Scallet, Helena Fabbri

AU - Mohr, Julia

AU - Biskup, Saskia

AU - Herkert, Johanna C.

AU - Pfundt, Rolph

AU - Mehta, Lakshmi

AU - Rekab, Aisha

AU - Elloumi, Houda Zghal

AU - Sanyoura, May

AU - Maciel-Guerra, Andréa Trevas

AU - Gil-da-Silva-Lopes, Vera Lúcia

AU - dos Santos, Ana Mondadori

AU - Vieira, Társis Paiva

PY - 2024/12

Y1 - 2024/12

N2 - Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with SOX11 variants and supports the role of this gene in HH.

AB - Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with SOX11 variants and supports the role of this gene in HH.

UR - http://www.scopus.com/inward/record.url?scp=85205074946&partnerID=8YFLogxK

U2 - 10.1038/s41431-024-01695-8

DO - 10.1038/s41431-024-01695-8

M3 - Article

AN - SCOPUS:85205074946

SN - 1018-4813

VL - 32

SP - 1640

EP - 1646

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 12

ER -

Novel variants in the SOX11 gene: clinical description of seven new patients

Abstract

Access to Document

Fingerprint

Cite this