De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory comprom...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2022/4791082 |
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| author | Rafat Mosalli Alfia Fatma Mohammed A. Almatrafi Mayada Mazroua Bosco Paes |
| author_facet | Rafat Mosalli Alfia Fatma Mohammed A. Almatrafi Mayada Mazroua Bosco Paes |
| author_sort | Rafat Mosalli |
| collection | DOAJ |
| description | Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short- and long-term outcomes and survival. We present a male, term infant with type II PS that was diagnostically suspected antenatally based on three-dimensional ultrasonographic findings that were confirmed postnatally by craniofacial tomography and magnetic resonance imaging. A new generation sequencing panel identified a unique de novo FGFR2, c.335 A > G p. Tyr112Cys variant, the first of its kind, and features that closely aligned with subtype II PS. Initial molecular results categorized the mutation as nonpathogenic, but it was later reclassified as pathogenic. Antenatal, multidisciplinary parental counseling about the tentative diagnosis and prognosis facilitated postnatal decisions that culminated in an informed choice for palliative care and early demise. |
| format | Article |
| id | doaj-art-4441933b5abc47bebbdd421b86c21c84 |
| institution | Kabale University |
| issn | 2090-6552 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-4441933b5abc47bebbdd421b86c21c842025-02-03T01:02:53ZengWileyCase Reports in Genetics2090-65522022-01-01202210.1155/2022/4791082De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer SyndromeRafat Mosalli0Alfia Fatma1Mohammed A. Almatrafi2Mayada Mazroua3Bosco Paes4Department of PediatricsWomen’s Health CenterDepartment of PediatricsDepartment of PediatricsDepartment of Pediatrics (Neonatal Division)Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory compromise that impact short- and long-term outcomes and survival. We present a male, term infant with type II PS that was diagnostically suspected antenatally based on three-dimensional ultrasonographic findings that were confirmed postnatally by craniofacial tomography and magnetic resonance imaging. A new generation sequencing panel identified a unique de novo FGFR2, c.335 A > G p. Tyr112Cys variant, the first of its kind, and features that closely aligned with subtype II PS. Initial molecular results categorized the mutation as nonpathogenic, but it was later reclassified as pathogenic. Antenatal, multidisciplinary parental counseling about the tentative diagnosis and prognosis facilitated postnatal decisions that culminated in an informed choice for palliative care and early demise.http://dx.doi.org/10.1155/2022/4791082 |
| spellingShingle | Rafat Mosalli Alfia Fatma Mohammed A. Almatrafi Mayada Mazroua Bosco Paes De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome Case Reports in Genetics |
| title | De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome |
| title_full | De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome |
| title_fullStr | De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome |
| title_full_unstemmed | De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome |
| title_short | De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome |
| title_sort | de novo heterozygous mutation in fgfr2 causing type ii pfeiffer syndrome |
| url | http://dx.doi.org/10.1155/2022/4791082 |
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