Pierpont syndrome: report of a new patient

Kahlert, Anne‐Karin; Weidensee, Sabine; Mackenroth, Luisa; Porrmann, Joseph; Rump, Andreas; Donato, Nataliya Di; Tzschach, Andreas

doi:10.1097/mcd.0000000000000184

Cited by 13 publications

(17 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Pierport syndrome represents a very rare multisystem disease. The incidence is not known, because only few patients were described, so far (Pierpont et al , 1998; Oudesluijs et al , 2005; Heinen et al , 2016; Kahlert et al , 2017; Slavotinek et al , 2017). The molecular basis of the disease was recognized only in nine cases (Heinen et al , 2016; Kahlert et al , 2017; Slavotinek et al , 2017) including our patient.…”

Section: Discussionmentioning

confidence: 99%

“…The incidence is not known, because only few patients were described, so far (Pierpont et al , 1998; Oudesluijs et al , 2005; Heinen et al , 2016; Kahlert et al , 2017; Slavotinek et al , 2017). The molecular basis of the disease was recognized only in nine cases (Heinen et al , 2016; Kahlert et al , 2017; Slavotinek et al , 2017) including our patient. Interestingly, all molecularly confirmed patients with Pierpont syndrome are heterozygotes for the same mutation c.1337A>G (p.Tyr446Cys) in the TBL1XR1 gene.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Tesařová¹,

Baxová²,

Hansı́ková³

et al. 2022

Clinical Dysmorphology

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Tesařová¹,

Baxová²,

Hansı́ková³

et al. 2022

Clinical Dysmorphology

View full text Add to dashboard Cite

show abstract

“…1,2 It was first clinically described in 1998 in two unrelated boys by Pierpont et al, 1 although its genetic elucidation became clear only in 2016. 2 On reverse phenotyping (reevaluation of the patient after the genetic report), we appreciated our patient to have features of PS [1][2][3][4][5][6] including distinct crescent moon-shaped eyes when the child smiled. Our patient however did not have HL and the classic deep palmar and plantar grooves described in other case reports of PS (►Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…2 PS is an ultrarare genetic disorder with just 11 cases reported in literature. [1][2][3][4][5][6] It is typified by growth and cognitive delays, hearing loss (HL), facial dysmorphisms, and abnormal fat distribution in the distal limbs. 1 Between 2016 and2017, eight unrelated individuals with PS were reported; all associated with a recurrent, de novo, missense, SNV; p.Tyr446Cys in TBL1XR1.…”

Section: Introductionmentioning

confidence: 99%

Novel De Novo TBL1XR1 Variant Causing PIERPONT Syndrome in an Indian Child: A Case Report and Genotype–Phenotype Review of Reported Patients

Bajaj¹,

Gadgil

Seenappa³

et al. 2022

Journal of Pediatric Neurology

View full text Add to dashboard Cite

The transducin β-like-1 X-linked-receptor-1 gene (TBL1XR1) encodes for the TBL1XR1 protein which is involved in transcription. Single-nucleotide variants (SNVs) in the TBL1XR1 gene have been reported to be associated with Pierpont's syndrome (PS) which exhibits numerous features including global developmental delay (GDD), intellectual disability (ID), varying neurobehavioral and psychiatric manifestations with/without autism spectrum disorder (ASD), abnormal fat distribution in the distal extremities, short stature (SS), head circumference abnormalities, hearing loss (HL), and facial dysmorphisms. Eight PS patients, having a de novo mutation resulting in p.Tyr446Cys, showed no manifestations of ASD. The three other PS patients, having mutations resulting in p.Tyr446His, p.Cys325Tyr and p.Gly237Asp, respectively, and without the p.Tyr446Cys alteration, were in addition associated with neurobehavioral abnormalities, including ASD, hyperactivity, and self-mutilation tendencies. Here, via trio whole exome sequencing, we describe a 12th PS patient, the first from the Indian subcontinent, reflecting a novel TBL1XR1 p.His348Arg alteration. The proband is a 4.5-year-old male having GDD, speech delay, facial dysmorphisms, abnormal digital fat pads, hypotonia, microcephaly, patent ductus arteriosus, and ASD features. Our report strengthens the hypothesis that TBL1XR1 variants coding for the TBL1XR1 protein other than p.Tyr446Cys might be more commonly associated with a neurobehavioral phenotype and autistic tendencies.

show abstract

“…Prompted by this patient, we decided to review all published clinical reports of individuals carrying TBL1XR1 missense mutations or microdeletions with regard to Rett criteria (Heinen et al, ; Kahlert et al, ; Pons et al, ; Saitsu et al, ; Slavotinek et al, ; Tabet et al, ). Table indicates which of the main criteria for RTT were fulfilled by these individuals.…”

Section: Clinical Features Of Published Tbl1xr1 Patients With Regard mentioning

confidence: 99%

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes

Zaghlula

Glaze

Enns

et al. 2018

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Funding informationBlue Bird Circle, Houston Mutations in MECP2 are causative for Rett syndrome (RTT, OMIM 312750) in 95-97% of typical cases (Amir et al., 1999; Neul et al., 2008). In order to diagnose typical Rett syndrome, a patient must have undergone developmental regression after developing neurotypically in the first 6-18 months. Additional obligatory features are loss of acquired language, loss of purposeful hand skills, gait abnormalities (dyspraxia), and Rett-typical hand stereotypies such as hand-washing or hand-wringing (Neul et al., 2010). A diagnosis of atypical RTT is given if an individual presents with a period of regression followed by stabilization, at least 2 out of the 4 main criteria mentioned above, and at least 5 out of 11 supportive criteria (see Table 1 for RTT diagnostic criteria) (Neul et al., 2010).We present a 7-year-old female patient born at 39 weeks by emergent C-section due to rupture of membranes. Maternal age at time of birth was 30 years and paternal age was 27 years. There was no consanguinity. The patient has an older full sister (age 10) who is healthy and has developed normally. At birth, our patient weighed 3,402 g (69%ile) and measured 50.8 cm (82%ile) in length. Apgar scores at birth were both nine at 1 and 5 min. Immediate postnatal course was uneventful and she left the hospital at 4 days of life. The mother soon noticed a poor suck when breastfeeding and the patient was noted to have global neonatal hypotonia. For that reason, the patient has been receiving physiotherapy since infancy. She rolled over at 11 months and started walking at 23 months of age. At around 2 years she spoke five words and was also able to communicate using five to six gestures.Stereotypic hand movements in the form of tapping and clapping started when she was 2 years old, but she never developed handwringing or hand-washing stereotypies. By the age of 2.5 years the patient had acquired around 50 words, which were subsequently reduced to 6 words in a regression phase that lasted from the ages of 3 to 4.5 years. During this period, the patient became more withdrawn and grew more irritable. She also did not sleep through the night and often cried inconsolably. The mother also reports that her daughter previously had a pincer grasp, which regressed to a raking grip. Postregression the patient uses 5 words and communicates mostly with a PRC (Prentke Romich Company) communication device with which she reportedly expresses about 70 words. She maintains some purposeful hand use as she can hold a cup, uses utensils to feed herself, and communicates by pointing or touching the PRC device. Her hand use is apraxic. The patient can walk, climb stairs, and run. However, her gait is broad-based and she is clumsy. The patient has bruxism and high pain tolerance. She has infrequent breath-holding episodes, of the type that

show abstract

Pierpont syndrome: report of a new patient

Cited by 13 publications

References 9 publications

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene

Novel De Novo TBL1XR1 Variant Causing PIERPONT Syndrome in an Indian Child: A Case Report and Genotype–Phenotype Review of Reported Patients

Current clinical evidence does not support a link between TBL1XR1 and Rett syndrome: Description of one patient with Rett features and a novel mutation in TBL1XR1, and a review of TBL1XR1 phenotypes

Contact Info

Product

Resources

About