Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant
Background and Aim. Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly, central nervous system anomalies, postnatal over...
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| Format: | Article |
| Language: | English |
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Palacký University Olomouc, Faculty of Medicine and Dentistry
2016-03-01
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| Series: | Biomedical Papers |
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| Online Access: | https://biomed.papers.upol.cz/artkey/bio-201601-0024_Malan_syndrome_Sotos_syndrome_2_in_two_patients_with_19p13_2_deletion_encompassing_NFIX_gene_and_novel_NFIX_s.php |
| _version_ | 1811209061405818880 |
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| author | Aleksandra Jezela-Stanek Marzena Kucharczyk Katarzyna Falana Dorota Jurkiewicz Marlena Mlynek Dorota Wicher Malgorzata Rydzanicz Monika Kugaudo Agata Cieslikowska Elzbieta Ciara Rafal Ploski Malgorzata Krajewska-Walasek |
| author_facet | Aleksandra Jezela-Stanek Marzena Kucharczyk Katarzyna Falana Dorota Jurkiewicz Marlena Mlynek Dorota Wicher Malgorzata Rydzanicz Monika Kugaudo Agata Cieslikowska Elzbieta Ciara Rafal Ploski Malgorzata Krajewska-Walasek |
| author_sort | Aleksandra Jezela-Stanek |
| collection | DOAJ |
| description | Background and Aim. Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly, central nervous system anomalies, postnatal overgrowth, and craniofacial dysmorphism. Unusual behavior with/without autistic traits, ophthalmologic, gastrointestinal, musculo-skeletal, and hand/foot abnormalities are also frequent. Due to the limited number of such cases, no definitive conclusions about genotype-phenotype correlations have been possible. In the following paper, we discuss physical features consistent with Sotos syndrome 2 based on literature review and two new cases [a patient with de novo 19p13.2 deletion encompassing a part of the NFIX gene and a patient with de novo (not described so far) heterozygous missense mutation c.367C>T (p.Arg123Trp) in the NFIX gene].
Results: Apart from overgrowth and psychomotor developmental delay, the most consistent physical features of our two patients are dysmorphism including high forehead, downslanting palpebral fissures, pointed chin, and abnormalities of the pinna. Both show abnormal behavior and present with long, tapered fingers and toenail defect. No severe congenital malformations were noted.
Conclusions: We hope these data will serve as a material for further studies and provide an opportunity to make more reliable genotype-phenotype correlations. |
| first_indexed | 2024-04-12T04:33:03Z |
| format | Article |
| id | doaj.art-00a51cc40d5848598367f934403563da |
| institution | Directory Open Access Journal |
| issn | 1213-8118 1804-7521 |
| language | English |
| last_indexed | 2024-04-12T04:33:03Z |
| publishDate | 2016-03-01 |
| publisher | Palacký University Olomouc, Faculty of Medicine and Dentistry |
| record_format | Article |
| series | Biomedical Papers |
| spelling | doaj.art-00a51cc40d5848598367f934403563da2022-12-22T03:47:53ZengPalacký University Olomouc, Faculty of Medicine and DentistryBiomedical Papers1213-81181804-75212016-03-01160116116710.5507/bp.2016.006bio-201601-0024Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variantAleksandra Jezela-Stanek0Marzena Kucharczyk1Katarzyna Falana2Dorota Jurkiewicz3Marlena Mlynek4Dorota Wicher5Malgorzata Rydzanicz6Monika Kugaudo7Agata Cieslikowska8Elzbieta Ciara9Rafal Ploski10Malgorzata Krajewska-Walasek11Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, Warsaw Medical University, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, Warsaw Medical University, Warsaw, PolandDepartment of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandBackground and Aim. Sotos syndrome 2 (MIM #614753), known also as Malan syndrome, is caused by heterozygous mutations/deletions of the NFIX gene located on chromosome 19p13.2. It manifests in developmental delay, intellectual impairment, macrocephaly, central nervous system anomalies, postnatal overgrowth, and craniofacial dysmorphism. Unusual behavior with/without autistic traits, ophthalmologic, gastrointestinal, musculo-skeletal, and hand/foot abnormalities are also frequent. Due to the limited number of such cases, no definitive conclusions about genotype-phenotype correlations have been possible. In the following paper, we discuss physical features consistent with Sotos syndrome 2 based on literature review and two new cases [a patient with de novo 19p13.2 deletion encompassing a part of the NFIX gene and a patient with de novo (not described so far) heterozygous missense mutation c.367C>T (p.Arg123Trp) in the NFIX gene]. Results: Apart from overgrowth and psychomotor developmental delay, the most consistent physical features of our two patients are dysmorphism including high forehead, downslanting palpebral fissures, pointed chin, and abnormalities of the pinna. Both show abnormal behavior and present with long, tapered fingers and toenail defect. No severe congenital malformations were noted. Conclusions: We hope these data will serve as a material for further studies and provide an opportunity to make more reliable genotype-phenotype correlations.https://biomed.papers.upol.cz/artkey/bio-201601-0024_Malan_syndrome_Sotos_syndrome_2_in_two_patients_with_19p13_2_deletion_encompassing_NFIX_gene_and_novel_NFIX_s.phpmalan syndromesotos syndrome 2nfix gene19p13.2 deletionnfix mutation |
| spellingShingle | Aleksandra Jezela-Stanek Marzena Kucharczyk Katarzyna Falana Dorota Jurkiewicz Marlena Mlynek Dorota Wicher Malgorzata Rydzanicz Monika Kugaudo Agata Cieslikowska Elzbieta Ciara Rafal Ploski Malgorzata Krajewska-Walasek Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant Biomedical Papers malan syndrome sotos syndrome 2 nfix gene 19p13.2 deletion nfix mutation |
| title | Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant |
| title_full | Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant |
| title_fullStr | Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant |
| title_full_unstemmed | Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant |
| title_short | Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant |
| title_sort | malan syndrome sotos syndrome 2 in two patients with 19p13 2 deletion encompassing nfix gene and novel nfix sequence variant |
| topic | malan syndrome sotos syndrome 2 nfix gene 19p13.2 deletion nfix mutation |
| url | https://biomed.papers.upol.cz/artkey/bio-201601-0024_Malan_syndrome_Sotos_syndrome_2_in_two_patients_with_19p13_2_deletion_encompassing_NFIX_gene_and_novel_NFIX_s.php |
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