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Article ; Online: Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations.

Pinho, Gabriella / Ross, Gabriela / Krishnamoorthy, Kaila / Kresge, Christina / Shih, Ling Yu / Apuzzio, Joseph J / Williams, Shauna F

Case reports in women's health

2022 Volume 34, Page(s) e00390

Abstract: Background: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition.: Cases: We present ... ...

Abstract	Background: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition. Cases: We present the pregnancy management and outcomes of two women with OTCD. The particular manifestations of the disease drive antenatal, intrapartum and postpartum management. Conclusion: Preconception counseling, early prenatal diagnostics and multidisciplinary intrapartum and postpartum management plans contribute to improved outcomes for patients.
Language	English
Publishing date	2022-01-30
Publishing country	Netherlands
Document type	Case Reports
ZDB-ID	2800286-6
ISSN	2214-9112 ; 2214-9112
ISSN (online)	2214-9112
ISSN	2214-9112
DOI	10.1016/j.crwh.2022.e00390
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Article ; Online: 46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.

Kunitomo, Mia / Khokhar, Aditi / Kresge, Christina / Edobor-Osula, Folorunsho / Pletcher, Beth A

American journal of medical genetics. Part A

2020 Volume 182, Issue 12, Page(s) 2887–2890

Abstract: Differences in sex development (DSD) are a group of rare conditions involving genes, hormones and reproductive organs, including genitals. Although these disorders are common, information about the molecular causes remain limited. Many genes have been ... ...

Abstract	Differences in sex development (DSD) are a group of rare conditions involving genes, hormones and reproductive organs, including genitals. Although these disorders are common, information about the molecular causes remain limited. Many genes have been identified in association with DSD but in many cases the causative gene could not be identified. The Lhx9 gene has been studied in mice and birds, and biallelic mutations in this gene have been found to cause 46,XY DSD and limb abnormalities. So far two variants of LHX9 have been identified in 46,XY individuals with testicular regression, micropenis and hypospadias. We report a de novo heterozygous missense variant in LHX9 in a girl with 46,XY DSD and finger and toe abnormalities. It was previously predicted that a mutation in LHX9 would not cause extragenital anomalies in light of prior animal studies, but our report adds to the limited knowledge of the phenotype observed in humans with a variant in LHX9. To the best of our knowledge this is the first reported case with this combination of abnormalities.
MeSH term(s)	Adult ; Child ; Disorder of Sex Development, 46,XY/complications ; Disorder of Sex Development, 46,XY/genetics ; Disorder of Sex Development, 46,XY/pathology ; Female ; Humans ; Infant, Newborn ; LIM-Homeodomain Proteins/genetics ; Limb Deformities, Congenital/complications ; Limb Deformities, Congenital/genetics ; Limb Deformities, Congenital/pathology ; Male ; Mutation, Missense ; Phenotype ; Transcription Factors/genetics ; Young Adult
Chemical Substances	LHX9 protein, human ; LIM-Homeodomain Proteins ; Transcription Factors
Language	English
Publishing date	2020-09-19
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.61860
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Article ; Online: Child Neurology: Type 1 sialidosis due to a novel mutation in

Aravindhan, Akilandeswari / Veerapandiyan, Aravindhan / Earley, Chelsea / Thulasi, Venkatraman / Kresge, Christina / Kornitzer, Jeffrey

Neurology

2019 Volume 90, Issue 13, Page(s) 622–624

MeSH term(s)	Adult ; Diagnosis, Differential ; Humans ; Male ; Mucolipidoses/diagnosis ; Mucolipidoses/genetics ; Mutation ; Neuraminidase/genetics ; Phenotype
Chemical Substances	NEU1 protein, human (EC 3.2.1.18) ; Neuraminidase (EC 3.2.1.18)
Language	English
Publishing date	2019-02-08
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000005209
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Article ; Online: SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

Smits, Daphne J / Schot, Rachel / Krusy, Nathalie / Wiegmann, Katja / Utermöhlen, Olaf / Mulder, Monique T / den Hoedt, Sandra / Yoon, Grace / Deshwar, Ashish R / Kresge, Christina / Pletcher, Beth / van Mook, Maura / Ferreira, Marta Serio / Poot, Raymond A / Slotman, Johan A / Kremers, Gert-Jan / Ahmad, Abeer / Albash, Buthaina / Bastaki, Laila /

Marafi, Dana / Dekker, Jordy / van Ham, Tjakko J / Nguyen, Laurent / Mancini, Grazia M S

Brain : a journal of neurology

2023 Volume 146, Issue 8, Page(s) 3528–3541

Abstract: Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental disorder with progressive congenital microcephaly and early death. SMPD4 encodes a sphingomyelinase that hydrolyses sphingomyelin into ceramide at neutral pH and can ... ...

Abstract	Biallelic loss-of-function variants in SMPD4 cause a rare and severe neurodevelopmental disorder with progressive congenital microcephaly and early death. SMPD4 encodes a sphingomyelinase that hydrolyses sphingomyelin into ceramide at neutral pH and can thereby affect membrane lipid homeostasis. SMPD4 localizes to the membranes of the endoplasmic reticulum and nuclear envelope and interacts with nuclear pore complexes (NPC). We refine the clinical phenotype of loss-of-function SMPD4 variants by describing five individuals from three unrelated families with longitudinal data due to prolonged survival. All individuals surviving beyond infancy developed insulin-dependent diabetes, besides presenting with a severe neurodevelopmental disorder and microcephaly, making diabetes one of the most frequent age-dependent non-cerebral abnormalities. We studied the function of SMPD4 at the cellular and organ levels. Knock-down of SMPD4 in human neural stem cells causes reduced proliferation rates and prolonged mitosis. Moreover, SMPD4 depletion results in abnormal nuclear envelope breakdown and reassembly during mitosis and decreased post-mitotic NPC insertion. Fibroblasts from affected individuals show deficient SMPD4-specific neutral sphingomyelinase activity, without changing (sub)cellular lipidome fractions, which suggests a local function of SMPD4 on the nuclear envelope. In embryonic mouse brain, knockdown of Smpd4 impairs cortical progenitor proliferation and induces premature differentiation by altering the balance between neurogenic and proliferative progenitor cell divisions. We hypothesize that, in individuals with SMPD4-related disease, nuclear envelope bending, which is needed to insert NPCs in the nuclear envelope, is impaired in the absence of SMPD4 and interferes with cerebral corticogenesis and survival of pancreatic beta cells.
MeSH term(s)	Humans ; Animals ; Mice ; Nuclear Envelope/chemistry ; Nuclear Envelope/metabolism ; Microcephaly/genetics ; Microcephaly/metabolism ; Sphingomyelin Phosphodiesterase/analysis ; Sphingomyelin Phosphodiesterase/genetics ; Sphingomyelin Phosphodiesterase/metabolism ; Nuclear Pore/metabolism ; Mitosis ; Diabetes Mellitus/metabolism
Chemical Substances	Sphingomyelin Phosphodiesterase (EC 3.1.4.12)
Language	English
Publishing date	2023-02-22
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awad033
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Article ; Online: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Christensen, Maria B / Levy, Amanda M / Mohammadi, Nazanin A / Niceta, Marcello / Kaiyrzhanov, Rauan / Dentici, Maria Lisa / Al Alam, Chadi / Alesi, Viola / Benoit, Valérie / Bhatia, Kailash P / Bierhals, Tatjana / Boßelmann, Christian M / Buratti, Julien / Callewaert, Bert / Ceulemans, Berten / Charles, Perrine / De Wachter, Matthias / Dehghani, Mohammadreza / D'haenens, Erika /

Doco-Fenzy, Martine / Geßner, Michaela / Gobert, Cyrielle / Guliyeva, Ulviyya / Haack, Tobias B / Hammer, Trine B / Heinrich, Tilman / Hempel, Maja / Herget, Theresia / Hoffmann, Ute / Horvath, Judit / Houlden, Henry / Keren, Boris / Kresge, Christina / Kumps, Candy / Lederer, Damien / Lermine, Alban / Magrinelli, Francesca / Maroofian, Reza / Vahidi Mehrjardi, Mohammad Yahya / Moudi, Mahdiyeh / Müller, Amelie J / Oostra, Anna J / Pletcher, Beth A / Ros-Pardo, David / Samarasekera, Shanika / Tartaglia, Marco / Van Schil, Kristof / Vogt, Julie / Wassmer, Evangeline / Winkelmann, Juliane / Zaki, Maha S / Zech, Michael / Lerche, Holger / Radio, Francesca Clementina / Gomez-Puertas, Paulino / Møller, Rikke S / Tümer, Zeynep

Clinical genetics

2022 Volume 102, Issue 2, Page(s) 98–109

Abstract: Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, ... ...

Abstract	Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders.
MeSH term(s)	Humans ; Intellectual Disability/diagnosis ; Movement Disorders/complications ; Neurodevelopmental Disorders/genetics ; Phenotype ; Seizures/complications ; Seizures/genetics ; Transcription Factors/genetics
Chemical Substances	Transcription Factors
Language	English
Publishing date	2022-06-08
Publishing country	Denmark
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14165
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Article ; Online: Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Yabumoto, Megan / Kianmahd, Jessica / Singh, Meghna / Palafox, Maria F / Wei, Angela / Elliott, Kathryn / Goodloe, Dana H / Dean, S Joy / Gooch, Catherine / Murray, Brianna K / Swartz, Erin / Schrier Vergano, Samantha A / Towne, Meghan C / Nugent, Kimberly / Roeder, Elizabeth R / Kresge, Christina / Pletcher, Beth A / Grand, Katheryn / Graham, John M /

Gates, Ryan / Gomez-Ospina, Natalia / Ramanathan, Subhadra / Clark, Robin Dawn / Glaser, Kimberly / Benke, Paul J / Cohen, Julie S / Fatemi, Ali / Mu, Weiyi / Baranano, Kristin W / Madden, Jill A / Gubbels, Cynthia S / Yu, Timothy W / Agrawal, Pankaj B / Chambers, Mary-Kathryn / Phornphutkul, Chanika / Pugh, John A / Tauber, Kate A / Azova, Svetlana / Smith, Jessica R / O'Donnell-Luria, Anne / Medsker, Hannah / Srivastava, Siddharth / Krakow, Deborah / Schweitzer, Daniela N / Arboleda, Valerie A

Molecular genetics & genomic medicine

2021 Volume 9, Issue 10, Page(s) e1809

Abstract: The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we ...

Abstract	The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Alleles ; Blepharophimosis/diagnosis ; Blepharophimosis/genetics ; Cohort Studies ; Congenital Hypothyroidism/diagnosis ; Congenital Hypothyroidism/genetics ; Craniofacial Abnormalities/diagnosis ; Craniofacial Abnormalities/genetics ; Facies ; Genetic Association Studies ; Genetic Counseling ; Genetic Loci ; Genetic Predisposition to Disease ; Genotype ; Heart Defects, Congenital/diagnosis ; Heart Defects, Congenital/genetics ; Histone Acetyltransferases/genetics ; Humans ; Intellectual Disability/diagnosis ; Intellectual Disability/genetics ; Joint Instability/diagnosis ; Joint Instability/genetics ; Kidney/abnormalities ; Male ; Mutation ; Patella/abnormalities ; Phenotype ; Psychomotor Disorders/diagnosis ; Psychomotor Disorders/genetics ; Scrotum/abnormalities ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics
Chemical Substances	Histone Acetyltransferases (EC 2.3.1.48) ; KAT6B protein, human (EC 2.3.1.48)
Language	English
Publishing date	2021-09-14
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2734884-2
ISSN	2324-9269 ; 2324-9269
ISSN (online)	2324-9269
ISSN	2324-9269
DOI	10.1002/mgg3.1809
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Article ; Online: MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

Coursimault, Juliette / Guerrot, Anne-Marie / Morrow, Michelle M / Schramm, Catherine / Zamora, Francisca Millan / Shanmugham, Anita / Liu, Shuxi / Zou, Fanggeng / Bilan, Frédéric / Le Guyader, Gwenaël / Bruel, Ange-Line / Denommé-Pichon, Anne-Sophie / Faivre, Laurence / Tran Mau-Them, Frédéric / Tessarech, Marine / Colin, Estelle / El Chehadeh, Salima / Gérard, Bénédicte / Schaefer, Elise /

Cogne, Benjamin / Isidor, Bertrand / Nizon, Mathilde / Doummar, Diane / Valence, Stéphanie / Héron, Delphine / Keren, Boris / Mignot, Cyril / Coutton, Charles / Devillard, Françoise / Alaix, Anne-Sophie / Amiel, Jeanne / Colleaux, Laurence / Munnich, Arnold / Poirier, Karine / Rio, Marlène / Rondeau, Sophie / Barcia, Giulia / Callewaert, Bert / Dheedene, Annelies / Kumps, Candy / Vergult, Sarah / Menten, Björn / Chung, Wendy K / Hernan, Rebecca / Larson, Austin / Nori, Kelly / Stewart, Sarah / Wheless, James / Kresge, Christina / Pletcher, Beth A / Caumes, Roseline / Smol, Thomas / Sigaudy, Sabine / Coubes, Christine / Helm, Margaret / Smith, Rosemarie / Morrison, Jennifer / Wheeler, Patricia G / Kritzer, Amy / Jouret, Guillaume / Afenjar, Alexandra / Deleuze, Jean-François / Olaso, Robert / Boland, Anne / Poitou, Christine / Frebourg, Thierry / Houdayer, Claude / Saugier-Veber, Pascale / Nicolas, Gaël / Lecoquierre, François

Human genetics

2021 Volume 141, Issue 1, Page(s) 65–80

Abstract: Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo ... ...

Abstract	Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite enrichment in de novo mutations in several developmental disorders and autism studies, the data on clinical characteristics and genotype-phenotype correlations are scarce, with only 22 patients with single nucleotide pathogenic variants reported. We aimed to further characterize this disorder at both the clinical and molecular levels by gathering a large series of patients with MYT1L-associated neurodevelopmental disorder. We collected genetic information on 40 unreported patients with likely pathogenic/pathogenic MYT1L variants and performed a comprehensive review of published data (total = 62 patients). We confirm that the main phenotypic features of the MYT1L-related disorder are developmental delay with language delay (95%), intellectual disability (ID, 70%), overweight or obesity (58%), behavioral disorders (98%) and epilepsy (23%). We highlight novel clinical characteristics, such as learning disabilities without ID (30%) and feeding difficulties during infancy (18%). We further describe the varied dysmorphic features (67%) and present the changes in weight over time of 27 patients. We show that patients harboring highly clustered missense variants in the 2-3-ZNF domains are not clinically distinguishable from patients with truncating variants. We provide an updated overview of clinical and genetic data of the MYT1L-associated neurodevelopmental disorder, hence improving diagnosis and clinical management of these patients.
MeSH term(s)	Adolescent ; Adult ; Child ; Child, Preschool ; Epilepsy/genetics ; Feeding and Eating Disorders/genetics ; Female ; Genetic Association Studies ; Genetic Variation ; Heterozygote ; Humans ; Infant ; Language Development Disorders/genetics ; Male ; Nerve Tissue Proteins/genetics ; Neurodevelopmental Disorders/genetics ; Obesity/genetics ; Phenotype ; Transcription Factors/genetics ; Young Adult
Chemical Substances	MYT1L protein, human ; Nerve Tissue Proteins ; Transcription Factors
Language	English
Publishing date	2021-11-08
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-021-02383-z
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Article ; Online: Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations.

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Article ; Online: 46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation.

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Article ; Online: Child Neurology: Type 1 sialidosis due to a novel mutation in

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Article ; Online: SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.

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Article ; Online: Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

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Article ; Online: Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

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Article ; Online: MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.

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